Global Variome shared LOVD
KCNQ1 (potassium voltage-gated channel, KQT-like su...)
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Global Variome, with Curator vacancy
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The variants shown are described using the NM_000218.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
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$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
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>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
_1_1i
c.-97652_386+22686del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.[1565895_2489400delins[(126);ins1565903_1565980;ins1561954_1562005inv;ins1863937_2368676inv;ins1566135_1565981]]
-
-
-
KCNQ1_000750
complex rearrangement, see Fig.4 for details
PubMed: Beygo 2016
,
Journal: Beygo 2016
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, MLPA-ms, PCR, SEQ-NG
-
-
BWS
-
PubMed: Beygo 2016
,
Journal: Beygo 2016
patient III-6 of 3-generation family, at least 3/4 previous pregnancies affected by omphalocoeles
F
-
Serbia
white
-
-
-
-
1
Jasmin Beygo
-/.
1
c.-5T>C
r.(=)
p.(=)
Unknown
-
benign
g.2466324T>C
g.2445094T>C
1-5T>C
-
KCNQ1_000760
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database
PubMed: Jongbloed 2002
-
-
Germline
-
0.10
-
-
-
DNA
SEQ
-
-
Healthy/Control
12402336-?
PubMed: Jongbloed 2002
data from Inherited Arrhythmias web site
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.-5T>C
r.(?)
p.(=)
Unknown
-
benign
g.2466324T>C
g.2445094T>C
KCNQ1(NM_000218.2):c.-5T>C, KCNQ1(NM_000218.3):c.-5T>C
-
KCNQ1_000760
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-5T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.2466324T>C
g.2445094T>C
KCNQ1(NM_000218.2):c.-5T>C, KCNQ1(NM_000218.3):c.-5T>C
-
KCNQ1_000760
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-5T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.2466324T>C
g.2445094T>C
KCNQ1(NM_000218.2):c.-5T>C, KCNQ1(NM_000218.3):c.-5T>C
-
KCNQ1_000760
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.?
r.?
p.?
Unknown
-
pathogenic
g.2549205C>T
-
S145L
-
KCNQ1_000000
data from Inherited Arrhythmias web site
Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Liu 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
16831322-?
PubMed: Liu 2006
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/+?
1
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.2466329A>G
g.2445099A>G
-
-
KCNQ1_001137
-
MORL Deafness Variation Database
,
PubMed: Moss 2007
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Moss 2007
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
1
c.1A>T
r.(?)
p.(Met1?)
Parent #1
-
pathogenic
g.2466329A>T
g.2445099A>T
-
-
KCNQ1_001138
-
MORL Deafness Variation Database
,
PubMed: Moss 2007
,
PubMed: Priori 2013
,
PubMed: Green 2013
,
PubMed: Wang 2011
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Moss 2007
,
PubMed: Priori 2013
,
PubMed: Green 2013
,
PubMed: Wang 2011
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
1
c.2T>C
r.(?)
p.(Met1?)
Parent #1
-
pathogenic
g.2466330T>C
g.2445100T>C
-
-
KCNQ1_001139
-
MORL Deafness Variation Database
,
PubMed: Tranebjærg 1993
,
PubMed: Wang 2011
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Tranebjærg 1993
,
PubMed: Wang 2011
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.5C>G
r.(?)
p.(Ala2Gly)
Unknown
-
VUS
g.2466333C>G
-
KCNQ1(NM_000218.3):c.5C>G (p.A2G)
-
KCNQ1_001418
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.5C>T
r.(?)
p.(Ala2Val)
Unknown
-
pathogenic
g.2466333C>T
g.2445103C>T
C5T
-
KCNQ1_000802
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.5C>T
r.(?)
p.(Ala2Val)
Parent #1
-
pathogenic
g.2466333C>T
g.2445103C>T
-
-
KCNQ1_000802
-
MORL Deafness Variation Database
,
PubMed: Obeyesekere 2012
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Obeyesekere 2012
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/?
1
c.8C>G
r.(?)
p.(Ala3Gly)
Parent #1
-
VUS
g.2466336C>G
g.2445106C>G
-
-
KCNQ1_001140
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.19C>T
r.(?)
p.(Pro7Ser)
Unknown
-
pathogenic
g.2466347C>T
g.2445117C>T
C19T
-
KCNQ1_000803
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.19C>T
r.(?)
p.(Pro7Ser)
Parent #1
-
pathogenic
g.2466347C>T
g.2445117C>T
-
-
KCNQ1_000803
-
MORL Deafness Variation Database
,
PubMed: Johnson 2008
,
PubMed: Hedley 2009
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Johnson 2008
,
PubMed: Hedley 2009
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
1
c.37A>T
r.(?)
p.(Lys13*)
Parent #1
-
pathogenic
g.2466365A>T
g.2445135A>T
-
-
KCNQ1_001141
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
1
c.40C>T
r.(?)
p.(Arg14Cys)
Parent #1
-
likely pathogenic
g.2466368C>T
g.2445138C>T
-
-
KCNQ1_001142
-
MORL Deafness Variation Database
,
PubMed: Otway 2007
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
ATFB
-
PubMed: Otway 2007
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.62C>T
r.(?)
p.(Pro21Leu)
Unknown
-
VUS
g.2466390C>T
-
-
-
KCNQ1_001424
-
-
-
rs1589884196
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.64G>C
r.(?)
p.(Gly22Arg)
Parent #1
-
VUS
g.2466392G>C
g.2445162G>C
-
-
KCNQ1_001143
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/?
1
c.81C>A
r.(?)
p.(Ser27Arg)
Parent #1
-
VUS
g.2466409C>A
g.2445179C>A
-
-
KCNQ1_001144
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
1
c.107dup
r.(?)
p.(Ser37Leufs*248)
Parent #1
-
pathogenic
g.2466435dup
g.2445205dup
-
-
KCNQ1_001145
-
MORL Deafness Variation Database
,
PubMed: Kapplinger 2009
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.108insT
r.(?)
p.(?)
Unknown
-
pathogenic
g.?
-
108insT
-
DRD4_000002
data from Inherited Arrhythmias web site
(grammar): Expected W:(acgt...) (at char 17), (line:1, col:18)
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.113T>C
r.(?)
p.(Leu38Pro)
Unknown
-
VUS
g.2466441T>C
g.2445211T>C
KCNQ1(NM_000218.3):c.113T>C (p.L38P)
-
KCNQ1_001026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.118C>T
r.(?)
p.(Leu40=)
Unknown
-
benign
g.2466446C>T
g.2445216C>T
KCNQ1(NM_000218.3):c.118C>T (p.L40=)
-
KCNQ1_001027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.136G>A
r.(?)
p.(Ala46Thr)
Unknown
-
pathogenic
g.2466464G>A
g.2445234G>A
G136A
-
KCNQ1_000804
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
16414944-?
PubMed: Napolitano 2005
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.136G>A
r.(?)
p.(Ala46Thr)
Unknown
-
VUS
g.2466464G>A
g.2445234G>A
KCNQ1(NM_000218.2):c.136G>A (p.(Ala46Thr))
-
KCNQ1_000804
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.136G>A
r.(?)
p.(Ala46Thr)
Unknown
ACMG
VUS
g.2466464G>A
g.2445234G>A
-
-
KCNQ1_000804
ACMG: PM2,PP2
-
-
rs199473671
Germline
-
-
-
-
-
DNA
SEQ-NG-S
-
-
?
-
-
-
M
-
-
-
-
-
-
-
1
Andreas Laner
+/+
1
c.136G>A
r.(?)
p.(Ala46Thr)
Parent #1
-
pathogenic
g.2466464G>A
g.2445234G>A
-
-
KCNQ1_000804
-
MORL Deafness Variation Database
,
PubMed: Chung 2007
,
PubMed: Yang 2009
,
PubMed: Kapplinger 2009
,
PubMed: Napolitano 2005
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Chung 2007
,
PubMed: Yang 2009
,
PubMed: Kapplinger 2009
,
PubMed: Napolitano 2005
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.136G>A
r.(?)
p.(Ala46Thr)
Parent #1
-
VUS
g.2466464G>A
g.2445234G>A
-
-
KCNQ1_000804
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs199473671
Germline
-
1/2784 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
?/.
-
c.136G>A
r.(?)
p.(Ala46Thr)
Unknown
-
VUS
g.2466464G>A
-
KCNQ1(NM_000218.2):c.136G>A (p.(Ala46Thr))
-
KCNQ1_000804
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.151dup
r.(?)
p.(Tyr51Leufs*234)
Unknown
-
pathogenic
g.2466479dup
g.2445249dup
151_152insT
-
KCNQ1_000805
data from Inherited Arrhythmias web site
(variantchecker): Insertion of T at position 259_260 was given, however, the HGVS notation prescribes that it should be a duplication of T at position 259_259.
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
16414944-?
PubMed: Napolitano 2005
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.151dup
r.(?)
p.(Tyr51Leufs*234)
Parent #1
-
pathogenic
g.2466479dup
g.2445249dup
-
-
KCNQ1_001146
-
MORL Deafness Variation Database
,
PubMed: Napolitano 2005
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Napolitano 2005
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.151dupT
r.(?)
p.(Tyr51LeufsTer234)
Unknown
-
pathogenic
g.2466479dup
g.2445249dup
-
-
KCNQ1_000805
variant definitively linked to disease
Fusco 2042, submitted
RCV000577438
rs397508094
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
CM
Fam252Pat268
Fusco 2042, submitted
-
F
-
Italy
white
-
-
-
-
1
Carmela Fusco
+/+
1
c.152A>G
r.(?)
p.(Tyr51Cys)
Parent #1
-
pathogenic
g.2466480A>G
g.2445250A>G
-
-
KCNQ1_001147
-
MORL Deafness Variation Database
,
PubMed: Wang 2014
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Wang 2014
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.153C>G
r.(?)
p.(Tyr51*)
Unknown
-
pathogenic
g.2466481C>G
g.2445251C>G
C153G
-
KCNQ1_000806
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
15840476-?
PubMed: Tester 2005
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.153C>G
r.(?)
p.(Tyr51*)
Parent #1
-
pathogenic
g.2466481C>G
g.2445251C>G
-
-
KCNQ1_000806
-
MORL Deafness Variation Database
,
PubMed: Kapa 2009
,
PubMed: Green 2013
,
PubMed: Tester 2005
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Kapa 2009
,
PubMed: Green 2013
,
PubMed: Tester 2005
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
-/.
1
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
benign
g.2466488_2466496dup
g.2445258_2445266dup
160_168dup
-
KCNQ1_000801
data from Inherited Arrhythmias web site
PubMed: Ackerman 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
14661677-?
PubMed: Ackerman 2003
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
benign
g.2466488_2466496dup
g.2445258_2445266dup
160_168dup
-
KCNQ1_000801
data from Inherited Arrhythmias web site
PubMed: Abraham 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
19646991-?
PubMed: Abraham 2010
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-/-
1
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
benign
g.2466488_2466496dup
g.2445258_2445266dup
dup160-168
-
KCNQ1_000801
-
PubMed: Ackerman 2003
-
-
Germline
-
4/305 controls
-
-
-
DNA
SEQ
-
-
-
14661677-con
PubMed: Ackerman 2003
305 African American controls
-
-
United States
African Americans
-
-
-
-
4
Johan den Dunnen
-?/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
likely benign
g.2466488_2466496dup
g.2445258_2445266dup
KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16...
-
KCNQ1_000801
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
likely benign
g.2466488_2466496dup
g.2445258_2445266dup
KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16...
-
KCNQ1_000801
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
benign
g.2466488_2466496dup
g.2445258_2445266dup
KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16...
-
KCNQ1_000801
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
likely benign
g.2466488_2466496dup
g.2445258_2445266dup
KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16...
-
KCNQ1_000801
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
ACMG
benign
g.2466481dup
-
-
-
KCNQ1_000801
ACMG: BS1,BS2 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
-
-
rs561562768
Germline
-
-
-
-
-
DNA
SEQ-NG-S
-
-
?
-
-
-
M
-
-
-
-
-
-
-
1
Andreas Laner
-?/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
likely benign
g.2466488_2466496dup
-
KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16...
-
KCNQ1_000801
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.160_168dup
r.(?)
p.(Ile54_Pro56dup)
Unknown
-
likely benign
g.2466488_2466496dup
-
KCNQ1(NM_000218.2):c.152_153insCGCGCCCAT (p.(Ile54_Pro56dup)), KCNQ1(NM_000218.2):c.160_168dupATCGCGCCC (p.I54_P56dup), KCNQ1(NM_000218.3):c.160_16...
-
KCNQ1_000801
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
1
c.170G>T
r.(?)
p.(Gly57Val)
Parent #1
-
likely pathogenic
g.2466498G>T
g.2445268G>T
-
-
KCNQ1_001148
-
MORL Deafness Variation Database
,
PubMed: Moss 2007
,
PubMed: Green 2013
,
PubMed: Costa 2012
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Moss 2007
,
PubMed: Green 2013
,
PubMed: Costa 2012
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
1
c.172G>C
r.(?)
p.(Ala58Pro)
Parent #1
-
pathogenic
g.2466500G>C
g.2445270G>C
-
-
KCNQ1_001149
-
MORL Deafness Variation Database
,
PubMed: Crotti 2012
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Crotti 2012
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.176del
r.(?)
p.(Pro59Glnfs*27)
Unknown
-
pathogenic
g.2466504del
g.2445274del
176delC
-
KCNQ1_000807
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.176del
r.(?)
p.(Pro59Glnfs*27)
Parent #1
-
pathogenic
g.2466504del
g.2445274del
-
-
KCNQ1_001150
-
MORL Deafness Variation Database
,
PubMed: Kapplinger 2009
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/?
1
c.184G>A
r.(?)
p.(Ala62Thr)
Parent #1
-
VUS
g.2466512G>A
g.2445282G>A
-
-
KCNQ1_001151
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.190_210del
r.(?)
p.(Pro64_Pro70del)
Unknown
-
pathogenic
g.2466518_2466538del
g.2445288_2445308del
190_210delCCTGCGTCCCCGGCCGCGCCC
-
KCNQ1_000761
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.194C>T
r.(?)
p.(Ala65Val)
Unknown
-
likely benign
g.2466522C>T
g.2445292C>T
KCNQ1(NM_000218.2):c.194C>T (p.A65V)
-
KCNQ1_001029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.197C>T
r.(?)
p.(Ser66Phe)
Unknown
-
pathogenic
g.2466525C>T
g.2445295C>T
C197T
-
KCNQ1_000808
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.197C>T
r.(?)
p.(Ser66Phe)
Parent #1
-
pathogenic
g.2466525C>T
g.2445295C>T
-
-
KCNQ1_000808
-
MORL Deafness Variation Database
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Kapplinger 2009
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.200_210del
r.(?)
p.(Pro67Argfs*214)
Unknown
-
pathogenic
g.2466528_2466538del
g.2445298_2445308del
200_210delCGGCCGCGCCC
-
KCNQ1_000762
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.207G>T
r.(?)
p.(Ala69=)
Unknown
-
benign
g.2466535G>T
g.2445305G>T
KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=)
-
KCNQ1_001030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.207G>T
r.(?)
p.(Ala69=)
Unknown
-
benign
g.2466535G>T
g.2445305G>T
KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=)
-
KCNQ1_001030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.207G>T
r.(?)
p.(Ala69=)
Unknown
-
likely benign
g.2466535G>T
g.2445305G>T
KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=)
-
KCNQ1_001030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.207G>T
r.(?)
p.(Ala69=)
Unknown
-
likely benign
g.2466535G>T
g.2445305G>T
KCNQ1(NM_000218.2):c.207G>T (p.A69=), KCNQ1(NM_000218.3):c.207G>T (p.A69=)
-
KCNQ1_001030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.208C>A
r.(?)
p.(Pro70Thr)
Parent #1
-
VUS
g.2466536C>A
g.2445306C>A
-
-
KCNQ1_001152
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.211_219del
r.(?)
p.(Ala71_Pro73del)
Unknown
-
pathogenic
g.2466539_2466547del
g.2445309_2445317del
211_219del
-
KCNQ1_000774
data from Inherited Arrhythmias web site
PubMed: Ackerman 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
10560595-?
PubMed: Ackerman 1999
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.211_219del
r.(?)
p.(Ala71_Pro73del)
Unknown
-
pathogenic
g.2466539_2466547del
g.2445309_2445317del
del 211–219
-
KCNQ1_000774
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
15840476-?
PubMed: Tester 2005
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.211_219del
r.(?)
p.(Ala71_Pro73del)
Unknown
-
pathogenic
g.2466539_2466547del
g.2445309_2445317del
AAPdel71–73
-
KCNQ1_000774
data from Inherited Arrhythmias web site
PubMed: Choi 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
15466642-Pat1
PubMed: Choi 2004
data from Inherited Arrhythmias web site
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.211_219del
r.(?)
p.(Ala71_Pro73del)
Unknown
-
likely benign
g.2466539_2466547del
g.2445309_2445317del
-
-
KCNQ1_000774
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.211_219del
r.(?)
p.(Ala71_Pro73del)
Parent #1
-
pathogenic
g.2466539_2466547del
g.2445309_2445317del
-
-
KCNQ1_000774
-
MORL Deafness Variation Database
,
PubMed: ACMG Board of Directors. 2015
,
PubMed: Alders 1993
,
PubMed: Green 2013
,
PubMed: Ackerman 1999
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: ACMG Board of Directors. 2015
,
PubMed: Alders 1993
,
PubMed: Green 2013
,
PubMed: Ackerman 1999
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/?
1
c.211_219dup
r.(?)
p.(Ala71_Pro73dup)
Parent #1
-
VUS
g.2466539_2466547dup
g.2445309_2445317dup
-
-
KCNQ1_001153
-
MORL Deafness Variation Database
,
PubMed: Kapa 2009
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Kapa 2009
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
1
c.217C>A
r.(?)
p.(Pro73Thr)
Maternal (confirmed)
-
VUS
g.2466545C>A
g.2445315C>A
-
-
KCNQ1_000239
-
PubMed: Riuro 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
-
PubMed: Riuro 2014
-
-
-
-
-
-
-
-
-
1
Anna Iglesias
+/.
1
c.217C>A
r.(?)
p.(Pro73Thr)
Unknown
-
pathogenic
g.2466545C>A
g.2445315C>A
C217A
-
KCNQ1_000239
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
15840476-?
PubMed: Tester 2005
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.217C>A
r.(?)
p.(Pro73Thr)
Unknown
-
VUS
g.2466545C>A
g.2445315C>A
KCNQ1(NM_000218.2):c.217C>A (p.P73T), KCNQ1(NM_000218.3):c.217C>A (p.P73T)
-
KCNQ1_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.217C>A
r.(?)
p.(Pro73Thr)
Unknown
-
VUS
g.2466545C>A
g.2445315C>A
KCNQ1(NM_000218.2):c.217C>A (p.P73T), KCNQ1(NM_000218.3):c.217C>A (p.P73T)
-
KCNQ1_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.217C>A
r.(?)
p.(Pro73Thr)
Unknown
ACMG
VUS
g.2466545C>A
g.2445315C>A
-
-
KCNQ1_000239
-
-
-
rs199472676
Germline
-
-
-
-
-
DNA
SEQ-NG-S
-
-
?
-
-
-
F
-
-
-
-
-
-
-
1
Andreas Laner
+/+
1
c.217C>A
r.(?)
p.(Pro73Thr)
Parent #1
-
pathogenic
g.2466545C>A
g.2445315C>A
-
-
KCNQ1_000239
-
MORL Deafness Variation Database
,
PubMed: Tester 2005
,
PubMed: Kapa 2009
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
,
PubMed: Giudicessi 2012
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Tester 2005
,
PubMed: Kapa 2009
,
PubMed: Kapplinger 2009
,
PubMed: Green 2013
,
PubMed: Giudicessi 2012
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.217C>A
r.(?)
p.(Pro73Thr)
Unknown
-
VUS
g.2466545C>A
-
KCNQ1(NM_000218.2):c.217C>A (p.P73T), KCNQ1(NM_000218.3):c.217C>A (p.P73T)
-
KCNQ1_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.220_221del
r.(?)
p.(Pro74Serfs*210)
Parent #1
-
pathogenic
g.2466548_2466549del
g.2445318_2445319del
220_221delCC
-
KCNQ1_000746
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
-
LQT1;RWS
-
Fam242
2-generation family, 1M, 2F
-
-
Germany
-
-
-
-
-
3
Hideki Itoh
-?/-?
1
c.225T>C
r.(=)
p.(=)
Parent #1
-
likely benign
g.2466553T>C
g.2445323T>C
-
-
KCNQ1_001154
-
MORL Deafness Variation Database
,
PubMed: Duzkale 2013
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
-
-
PubMed: Duzkale 2013
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
-?/.
-
c.225T>C
r.(?)
p.(Val75=)
Unknown
-
likely benign
g.2466553T>C
-
KCNQ1(NM_000218.2):c.225T>C (p.V75=), KCNQ1(NM_000218.3):c.225T>C (p.V75=)
-
KCNQ1_001154
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.225T>C
r.(?)
p.(Val75=)
Unknown
-
likely benign
g.2466553T>C
-
KCNQ1(NM_000218.2):c.225T>C (p.V75=), KCNQ1(NM_000218.3):c.225T>C (p.V75=)
-
KCNQ1_001154
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.242C>T
r.(?)
p.(Pro81Leu)
Parent #1
-
VUS
g.2466570C>T
g.2445340C>T
-
-
KCNQ1_001155
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.242_264delinsGCGCCCGCGG
r.(?)
p.(Pro81Argfs*152)
Unknown
-
pathogenic
g.2466570_2466592delinsGCGCCCGCGG
g.2445340_2445362delinsGCGCCCGCGG
242_264delCGCGGCCGCCGGTGAGCCTAGACinsGCGCCCGCGG
-
KCNQ1_000763
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/?
1
c.251C>G
r.(?)
p.(Pro84Arg)
Parent #1
-
VUS
g.2466579C>G
g.2445349C>G
-
-
KCNQ1_001156
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.270del
r.(?)
p.(Val91Serfs*146)
Unknown
ACMG
likely pathogenic
g.2466598del
g.2445368del
-
-
KCNQ1_001110
ACMG grading: PM2,PVS1
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-S
-
-
-
-
-
-
M
-
-
-
-
-
-
-
1
Andreas Laner
+/.
-
c.270del
r.(?)
p.(Val91Serfs*146)
Unknown
-
pathogenic
g.2466598del
-
KCNQ1(NM_000218.3):c.270delC (p.V91Sfs*146)
-
KCNQ1_001110
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.273_299delinsTG
r.(?)
p.(Ser92Glyfs*137)
Unknown
-
pathogenic
g.2466601_2466627delinsTG
g.2445371_2445397delinsTG
273_299delCTCCATCTACAGCACGCGCCGCCCGGTinsGG
-
KCNQ1_000764
data from Inherited Arrhythmias web site
PubMed: Kapplinger 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LQT1;RWS
19716085-?
PubMed: Kapplinger 2009
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.287C>G
r.(?)
p.(Thr96Arg)
Parent #1
-
pathogenic
g.2466615C>G
g.2445385C>G
-
-
KCNQ1_001157
-
MORL Deafness Variation Database
,
PubMed: Skinner 2011
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Skinner 2011
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.287C>G
r.(?)
p.(Thr96Arg)
Unknown
-
VUS
g.2466615C>G
-
KCNQ1(NM_000218.2):c.287C>G (p.T96R)
-
KCNQ1_001157
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.287del
r.(?)
p.(Thr96Serfs*141)
Unknown
-
pathogenic
g.2466615del
g.2445385del
delC287
-
KCNQ1_000809
-
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
DNA
SEQ
-
-
LQT
15840528-Pat
PubMed: Tester 2005
541 LQT cases
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.292C>A
r.(?)
p.(Arg98Ser)
Unknown
-
VUS
g.2466620C>A
-
KCNQ1(NM_000218.2):c.292C>A (p.(Arg98Ser))
-
KCNQ1_001397
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.296C>G
r.(?)
p.(Pro99Arg)
Parent #1
-
pathogenic
g.2466624C>G
g.2445394C>G
-
-
KCNQ1_001158
-
MORL Deafness Variation Database
,
PubMed: Wang 2014
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Wang 2014
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
1
c.298del
r.(?)
p.(Val100Cysfs*137)
Parent #1
-
pathogenic
g.2466626del
g.2445396del
298delG
-
KCNQ1_000745
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
-
LQT1;RWS
-
Fam1079
3-generation family, 2M, 1F
-
-
Germany
-
-
-
-
-
3
Hideki Itoh
+/+
1
c.310_329dup
r.(?)
p.(Tyr111Profs*133)
Parent #1
-
pathogenic
g.2466638_2466657dup
g.2445408_2445427dup
-
-
KCNQ1_001159
-
MORL Deafness Variation Database
,
PubMed: Cuneo 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Cuneo 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
1
c.314A>T
r.(?)
p.(His105Leu)
Parent #1
-
likely pathogenic
g.2466642A>T
g.2445412A>T
-
-
KCNQ1_001160
-
MORL Deafness Variation Database
,
PubMed: Wedekind 2006
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Wedekind 2006
,
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/+
1
c.319C>T
r.(?)
p.(Gln107*)
Parent #1
-
pathogenic
g.2466647C>T
g.2445417C>T
-
-
KCNQ1_001161
-
MORL Deafness Variation Database
,
PubMed: Crotti 2012
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
LQT
-
PubMed: Crotti 2012
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/+?
1
c.321G>T
r.(?)
p.(Gln107His)
Parent #1
-
likely pathogenic
g.2466649G>T
g.2445419G>T
-
-
KCNQ1_001162
-
MORL Deafness Variation Database
,
PubMed: Green 2013
-
-
SUMMARY record
-
-
-
-
-
DNA
?
-
-
?
-
PubMed: Green 2013
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
-/.
1
c.328A>G
r.(?)
p.(?)
Unknown
-
benign
g.2466656A>G
-
A328G
-
KCNQ1_000810
data from Inherited Arrhythmias web site
(variantchecker): A not found at position 436, found G instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
PubMed: Ackerman 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
14661677-?
PubMed: Ackerman 2003
data from Inherited Arrhythmias web site
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.328G>A
r.(?)
p.(Val110Ile)
Unknown
-
pathogenic
g.2466656G>A
g.2445426G>A
-
-
KCNQ1_000756
-
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
HaloPlex gene panel (70 heart genes)
?
5
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
stillbirth cohort (290 cases from Sweden)
M
?
Sweden
-
-
-
-
-
1
Ellika Sahlin
+/.
-
c.328G>A
r.(?)
p.(Val110Ile)
Unknown
-
pathogenic
g.2466656G>A
g.2445426G>A
-
-
KCNQ1_000756
-
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
HaloPlex gene panel (70 heart genes)
?
228
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
stillbirth cohort (290 cases from Sweden)
M
-
Sweden
-
-
-
-
-
1
Ellika Sahlin
-/-
1
c.328G>A
r.(?)
p.(Val110Ile)
Unknown
-
benign
g.2466656G>A
g.2445426G>A
-
-
KCNQ1_000756
-
PubMed: Ackerman 2003
-
-
Germline
-
1/187 controls
-
-
-
DNA
SEQ
-
-
-
14661710-con
PubMed: Ackerman 2003
187 Caucasian controls
-
-
United States
European, white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.328G>A
r.(?)
p.(Val110Ile)
Unknown
-
VUS
g.2466656G>A
-
KCNQ1(NM_000218.2):c.328G>A (p.V110I)
-
KCNQ1_000756
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.332A>G
r.(?)
p.(Tyr111Cys)
Parent #1
-
pathogenic
g.2466660A>G
g.2445430A>G
-
-
KCNQ1_000654
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
leukocyte
-
LQT1;RWS
-
B1334
2-generation family, 0M, 2F
-
-
France
-
-
-
-
-
2
Hideki Itoh
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